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Article

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.

Clinical genetics - 1 Dec 2011

Barbosa M, Sousa A B, Medeira A, Lourenço T, Saraiva J, Pinto-Basto J, Soares G, Fortuna A M, Superti-Furga A, Mittaz L, Reis-Lima M, Bonafé L

Abstract excerpt

SLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epiphyseal dysplasia (rMED; MIM #226900). This study aimed at characterizing clinically, radiologically and molecularly 14 patients affected by non-lethal SLC26A2-related...

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PMID: 21155763
DOI: 10.1111/j.1399-0004.2010.01595.x

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